Suchergebnisse - "FAMILIAL INTRAHEPATIC CHOLESTASIS"

Odevixibat therapy in progressive familial intrahepatic cholestasis with MYO5B variants: a retrospective case series

Autoren: Bertrand Roquelaure Marco Sciveres Tassos Grammatikopoulos et al.

Quelle: Orphanet Journal of Rare Diseases, Vol 20, Iss 1, Pp 1-8 (2025)

Schlagwörter: Progressive Familial intrahepatic cholestasis, Myosin 5B, Pruritus, Bilirubin, Odevixibat, Serum bile acid, Medicine

Dateibeschreibung: electronic resource

Relation: https://doaj.org/toc/1750-1172

Zugangs-URL: https://doaj.org/article/7eacde4d65284672ab2cb24b74770039

Clinical and molecular genetic characteristics of pediatric PFIC3 patients: three novel variants and prognosis for parental liver transplantation

Autoren: Jiqiang Hu Chenyu Yang Bingqian Tan et al.

Quelle: Orphanet Journal of Rare Diseases, Vol 20, Iss 1, Pp 1-11 (2025)

Schlagwörter: Progressive familial intrahepatic cholestasis type 3, ABCB4, MDR3, Cholestasis, Medicine

Dateibeschreibung: electronic resource

Relation: https://doaj.org/toc/1750-1172

Zugangs-URL: https://doaj.org/article/1c56c3fe6ceb4ef1bfee2e5bacd7c52a

Hepatocellular carcinoma associated with progressive intrahepatic familial cholestasis type 2: a case report

Autoren: João Miguel Pimentel Susana Nobre Rui Caetano Oliveira et al.

Quelle: Clin Transplant Res
Clinical Transplantation and Research, Vol 38, Iss 3, Pp 241-245 (2024)

Schlagwörter: RC581-951, RD1-811, Specialties of internal medicine, progressive familial intrahepatic cholestasis, liver transplantation, hepatocellular carcinoma, cirrhosis, case report, Surgery, Case Report

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/39344700
https://doaj.org/article/0604295cf598443988f36830637e1098

PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS IN CHILDREN

Autoren: R.A. GUDKOV A.V. DMITRIEV N.V. FEDINA et al.

Quelle: Паёми Сино, Vol 27, Iss 1, Pp 143-154 (2025)

Schlagwörter: progressive familial intrahepatic cholestasis, newborns, children, cholestatic jaundice, direct hyperbilirubinemia, Public aspects of medicine, RA1-1270

Dateibeschreibung: electronic resource

Relation: https://doaj.org/toc/2074-0581; https://doaj.org/toc/2959-6327

Zugangs-URL: https://doaj.org/article/a6d5ed648a454c5ba6079962b53a5301

Genotypes and different clinical variants between children and adults in progressive familial intrahepatic cholestasis: a state-of-the-art review

Autoren: Vitale, Giovanni Sciveres, Marco Mandato, Claudia et al.

Weitere Verfasser: Vitale, Giovanni Sciveres, Marco Mandato, Claudia et al.

Quelle: Orphanet J Rare Dis
Orphanet Journal of Rare Diseases, Vol 20, Iss 1, Pp 1-21 (2025)

Schlagwörter: Intrahepatic, Adult, PFIC, cholestasis, Cholestasis, Genotype, Pruritus, Review, Cholestasis, Intrahepatic, Bile acids, Liver Transplantation, Paediatric, Drug therapy, Progressive familial intrahepatic cholestasis, Quality of life, Recurrent, Medicine, Humans, Child

Dateibeschreibung: ELETTRONICO; application/pdf

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/39984942
https://doaj.org/article/a6dd4a0ff1944a598b648eed5a657d9a
https://ojrd.biomedcentral.com/articles/10.1186/s13023-025-03599-2
https://hdl.handle.net/11368/3105679
https://ojrd.biomedcentral.com/articles/10.1186/s13023-025-03599-2
https://hdl.handle.net/11368/3105679
https://doi.org/10.1186/s13023-025-03599-2
https://hdl.handle.net/11386/4901815
https://doi.org/10.1186/s13023-025-03599-2

Molecular basis of progressive familial intrahepatic cholestasis 3. A proteomics study

Autoren: Laura Guerrero Lorena Carmona‐Rodríguez Fátima Milhano Santos et al.

Quelle: BIOFACTORS

Schlagwörter: EXPRESSION, Proteomics, Male, 0301 basic medicine, ATP Binding Cassette Transporter, Subfamily B, progressive familial intrahepatic cholestasis 3, Cholestasis, Intrahepatic, liver, DISEASE, Bile Acids and Salts, Mice, 03 medical and health sciences, proteomics, Medicine and Health Sciences, Humans, Animals, Phosphorylation, PHOSPHORYLATION, 0303 health sciences, MUTATIONS, Biology and Life Sciences, phosphoproteomics, ABCB4, 3. Good health, Disease Models, Animal, Liver, Mutation, MDR3, BILE, Female

Dateibeschreibung: application/pdf

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/38284625
http://hdl.handle.net/1854/LU-01JY69GN1EKY466ZPE2YSVX09A
https://biblio.ugent.be/publication/01JY69GN1EKY466ZPE2YSVX09A
https://biblio.ugent.be/publication/01JY69GN1EKY466ZPE2YSVX09A/file/01JYE8190STBAQ2JVDSTGT7BF4
http://doi.org/10.1002/biof.2041

Next-generation sequencing panel test results in pediatric patients with progressive familial intrahepatic cholestasis: a single-center experience

Autoren: Ali TOPAK

Quelle: November 2023; Volume: 9, Issue: 6 1438-1443
The European Research Journal

Schlagwörter: 0301 basic medicine, Tıbbi Genetik (Kanser Genetiği hariç), 0303 health sciences, 03 medical and health sciences, Progressive familial intrahepatic cholestasis, novel, ABCB11, ABCB4, ATP8B1, Medical Genetics (Excl. Cancer Genetics)

Dateibeschreibung: application/pdf

Zugangs-URL: https://dergipark.org.tr/tr/pub/eurj/issue/79519/1340536

Progressive familial intrahepatic cholestasis type 4: a case report

Autoren: Mohamed Abdelmalak Abokandil Saber Waheeb Wessam Zaghloul et al.

Quelle: Journal of Medical Case Reports, Vol 18, Iss 1, Pp 1-5 (2024)

Schlagwörter: Pruritus, Progressive familial intrahepatic cholestasis, Case report, Medicine

Dateibeschreibung: electronic resource

Relation: https://doaj.org/toc/1752-1947

Zugangs-URL: https://doaj.org/article/2e15d55f344e426f8a2be85c6f75fc31

Food and Drug Administration Approval Summary: Odevixibat (Bylvay) for the Treatment of Pruritus With Progressive Familial Intrahepatic Cholestasis

Autoren: Sojeong Yi Insook Kim Rebecca Hager et al.

Quelle: Gastro Hep Advances, Vol 4, Iss 4, Pp 100596- (2025)

Schlagwörter: Clinical Outcome Assessment (COA), Pruritus, Itching, Progressive Familial Intrahepatic Cholestasis (PFIC), Adverse Events (AE), Diseases of the digestive system. Gastroenterology, RC799-869

Dateibeschreibung: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2772572324001924; https://doaj.org/toc/2772-5723

Zugangs-URL: https://doaj.org/article/b7e7313e527342b1a68e5b1d34a151ca

Additional file 1 of Odevixibat therapy in progressive familial intrahepatic cholestasis with MYO5B variants: a retrospective case series

Autoren: Bertrand Roquelaure Marco Sciveres Tassos Grammatikopoulos et al.

Schlagwörter: Medicine, Pharmacology, Immunology, Cancer, Virology, Chemical Sciences not elsewhere classified, Progressive Familial intrahepatic cholestasis, Myosin 5B, Pruritus, Bilirubin, Odevixibat, Serum bile acid, Ileal bile acid transporter inhibitor

Relation: https://figshare.com/articles/journal_contribution/Additional_file_1_of_Odevixibat_therapy_in_progressive_familial_intrahepatic_cholestasis_with_MYO5B_variants_a_retrospective_case_series/29060673

Verfügbarkeit: https://doi.org/10.6084/m9.figshare.29060673.v1
https://figshare.com/articles/journal_contribution/Additional_file_1_of_Odevixibat_therapy_in_progressive_familial_intrahepatic_cholestasis_with_MYO5B_variants_a_retrospective_case_series/29060673

Non-syndromic perspective on a unique progressive familial intrahepatic cholestasis variant: ZFYVE19 mutation

Autoren: Coşkun Fırat Özkeçeci Melike Arslan Edibe Gözde Başaran et al.

Quelle: The Turkish Journal of Pediatrics, Vol 66, Iss 4 (2024)

Schlagwörter: Male, Ursodeoxycholic Acid, Cholestasis, Intrahepatic, Pediatrics, RJ1-570, ursodeoxycholic acid, whole exome sequencing, Child, Preschool, Mutation, Exome Sequencing, Humans, progressive familial intrahepatic cholestasis, Female, cholestasis

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/39387424
https://doaj.org/article/c8cfede0e4734ec9b7d2a9e7911a64d6

A 19-year-old Patient with Recurrent Pruritus and Jaundice

Autoren: K. S. Nezhdanov E. N. Shirokova Yu. O. Shulpekova et al.

Quelle: Российский журнал гастроэнтерологии, гепатологии, колопроктологии, Vol 33, Iss 3, Pp 66-75 (2023)

Schlagwörter: 0301 basic medicine, 03 medical and health sciences, 0302 clinical medicine, plasmapheresis, benign recurrent intrahepatic cholestasis, progressive familial intrahepatic cholestasis, abcb11, RC799-869, Diseases of the digestive system. Gastroenterology, cholestasis, ursodeoxycholic acid, 3. Good health

Zugangs-URL: https://doaj.org/article/3b376864dd3b4bd7afad404c0ceefb92

Heterozygous mutations of ATP8B1, ABCB11 and ABCB4 cause mild forms of Progressive Familial Intrahepatic Cholestasis in a pediatric cohort

Autoren: Rodríguez BM Busoms CM Sampol LM et al.

Quelle: GASTROENTEROLOGIA Y HEPATOLOGIA
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Fundació Sant Joan de Déu

Schlagwörter: 0301 basic medicine, ATP Binding Cassette Transporter, Subfamily B, Cholestasis, Intrahepatic, Bile Acids and Salts, 03 medical and health sciences, ATP8B1, Humans, Child, ATP Binding Cassette Transporter, Subfamily B, Member 11, Transaminases, Retrospective Studies, Intrahepatic, Adenosine Triphosphatases, Progressive Familial Intrahepatic Cholestasis, 0303 health sciences, Cholestasis, Pruritus, Ursodeoxycholic Acid, FIC1, Bilirubin, ABCB11, ABCB4, Colestasis intrahepática progresiva familiar, gamma-Glutamyltransferase, 3. Good health, BSEP, Child, Preschool, Mutation, MDR3, Progressive Familial

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/34942279
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=20443
https://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=20443

Abcb4-defect cholangitis mouse model with hydrophobic bile acid composition by in vivo liver-specific gene deletion

Autoren: Kota Tsuruya Keiko Yokoyama Yusuke Mishima et al.

Quelle: Journal of Lipid Research, Vol 65, Iss 9, Pp 100616- (2024)

Schlagwörter: progressive familial intrahepatic cholestasis, genome editing, bile acid composition, adeno-associated virus, Biochemistry, QD415-436

Dateibeschreibung: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0022227524001214; https://doaj.org/toc/0022-2275

Zugangs-URL: https://doaj.org/article/2a4541ec5dc744d3a56da22800f1c39c

Varied Aetiologies and Outcome of Neonatal Cholestasis: A Series of Four Cases

Autoren: S Sivanandam R Prabhu vikash R Balakrishnan et al.

Quelle: Journal of Clinical and Diagnostic Research, Vol 17, Iss 09, Pp 01-05 (2023)

Schlagwörter: biliary atresia, hyperbilirubinemia, progressive familial intrahepatic cholestasis, kasai procedure, Medicine

Dateibeschreibung: electronic resource

Relation: https://jcdr.net/articles/PDF/18502/62840_CE[Ra1]_F(SS)_QC(KK_IS)_PF1(AkA_OM)_PFA_NC(AKA_KM)_PN(KM).pdf; https://doaj.org/toc/2249-782X; https://doaj.org/toc/0973-709X

Zugangs-URL: https://doaj.org/article/e4e7b32168914166b2ac14c3f7cef78e

A female of progressive familial intrahepatic cholestasis type 3 caused by heterozygous mutations of ABCB4 gene and her cirrhosis improved after treatment of ursodeoxycholic acid: a case report

Autoren: Fei Qiao Feng Ren Weiting Lu et al.

Quelle: BMC Medical Genomics, Vol 16, Iss 1, Pp 1-11 (2023)

Schlagwörter: Progressive familial intrahepatic cholestasis type 3 (PFIC3), ATP binding cassette subfamily B member 4 (ABCB4) gene, Multidrug-resistant protein 3 (MDR3), Ursodeoxycholic acid (UDCA), Case report, Internal medicine, RC31-1245, Genetics, QH426-470

Dateibeschreibung: electronic resource

Relation: https://doaj.org/toc/1755-8794

Zugangs-URL: https://doaj.org/article/1e78484298ae460eb8e0315dcb3292a7

Cholestatic Liver Disease in Late Childhood: A Report of Two Rare Cases

Autoren: Sangeeta kini Azmat Momin Rima N Kamat et al.

Quelle: Journal of Clinical and Diagnostic Research, Vol 17, Iss 11, Pp 01-03 (2023)

Schlagwörter: benign recurrent intrahepatic cholestasis, progressive familial intrahepatic cholestasis type 3, Medicine

Dateibeschreibung: electronic resource

Relation: https://www.jcdr.net/articles/PDF/18663/64846_CE[Ra1]_F(SS)_QC&Ref(AN_SS)_PF1(RI_OM)_PFA_NC(RI_KM)_PN(KM).pdf; https://doaj.org/toc/2249-782X; https://doaj.org/toc/0973-709X

Zugangs-URL: https://doaj.org/article/cc4bcd4812244792b1e98ed092cc0cf7

Evaluating the non-invasive tools for assessment of liver fibrosis in children with intrahepatic cholestasis prior to partial biliary diversion: tertiary-center experience

Autoren: Hadeer Mohamed Nasr El-din Noha Adel Nehal EL-koofy et al.

Quelle: Egyptian Pediatric Association Gazette, Vol 71, Iss 1, Pp 1-5 (2023)

Schlagwörter: Progressive familial intrahepatic cholestasis, Allagille syndrome, Liver fibrosis, APRI, FibroScan, Liver biopsy, Pediatrics, RJ1-570

Dateibeschreibung: electronic resource

Relation: https://doaj.org/toc/2090-9942

Zugangs-URL: https://doaj.org/article/c887159b68f54d07bbc60594a0679fd9

Practical Considerations for Odevixibat Treatment in Patients with Progressive Familial Intrahepatic Cholestasis: A Single-Center Case Series

Autoren: Milena Marx Steffen Hartleif Johannes Hilberath et al.

Quelle: Journal of Clinical Medicine ; Volume 13 ; Issue 24 ; Pages: 7508

Schlagwörter: progressive familial intrahepatic cholestasis, odevixibat, serum bile acids, pruritus

Dateibeschreibung: application/pdf

Relation: Gastroenterology & Hepatopancreatobiliary Medicine; https://dx.doi.org/10.3390/jcm13247508

Verfügbarkeit: https://doi.org/10.3390/jcm13247508

Progressive familial intrahepatic cholestasis—outcome and time to transplant after biliary diversion according to genetic subtypes

Autoren: Abdulla Sahloul Elke Lainka Simone Kathemann et al.

Quelle: Front Surg
Frontiers in Surgery, Vol 10 (2023)

Schlagwörter: Medizinische Fakultät » Universitätsklinikum Essen » Klinik für Allgemeinchirurgie, ddc:610, Medizinische Fakultät » Universitätsklinikum Essen » Klinik für Allgemeinchirurgie, Viszeral- und Transplantationschirurgie, Medizinische Fakultät » Universitätsklinikum Essen » Zentrum für Kinder- und Jugendmedizin » Klinik für Kinderheilkunde II, RD1-811, Medizin, biliary diversion -- morbus byler -- pediatric liver transplantation (pediatric LT) -- progressive familial intrahepatic cholestasis (PFIC) -- pediatric surgery -- liver disease, biliary diversion, Medizinische Fakultät » Universitätsklinikum Essen » Klinik für Dermatologie, morbus byler, pediatric liver transplantation (pediatric LT), 3. Good health, progressive familial intrahepatic cholestasis (PFIC), Viszeral- und Transplantationschirurgie, pediatric surgery, Surgery, liver disease, ScholarlyArticle

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/37361697
https://doaj.org/article/b7161b171bf043bea082795a27b329ed
https://duepublico2.uni-due.de/receive/duepublico_mods_00079002
https://www.ncbi.nlm.nih.gov/pubmed/37361697
https://duepublico2.uni-due.de/receive/duepublico_mods_00079002
https://doi.org/10.3389/fsurg.2023.1074229